المؤلفون: Srebniak, M.I., Jehee, F.S., Joosten, M., Boter, M., de Valk, W.G., van der Helm, R., Sistermans, E.A., Voorhoeve, E., Bhola, S., Hoffer, M.J.V., den Hollander, N., Macville, M.V.E., Van Opstal, D.

المصدر: Srebniak , M I , Jehee , F S , Joosten , M , Boter , M , de Valk , W G , van der Helm , R , Sistermans , E A , Voorhoeve , E , Bhola , S , Hoffer , M J V , den Hollander , N , Macville , M V E & Van Opstal , D 2021 , ' Non-invasive prenatal diagnosis for translocation carriers-YES please or NO go? ' , Acta Obstetricia et Gynecologica Scandinavica , vol. 100 , no. 11 , pp. 2036-2043 . https://doi.org/10.1111/aogs.14256

مصطلحات موضوعية: cell free DNA screening, copy number variant analysis, fetal fraction, non-invasive prenatal screening, unbalanced translocation, CELL-FREE DNA, ABNORMAL KARYOTYPES, FETAL DNA, FRACTION, PLASMA, WOMEN

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/89a350fd-0a73-4d3b-af5d-a75de1f14ca0
https://doi.org/10.1111/aogs.14256

المؤلفون: de Groot-van der Mooren, M., de Graaf, G., Weijerman, M.E., Hoffer, M.J.V., Knijnenburg, J., van der Kevie-Kersemaekers, A.M.M.F., Kooper, A.J.A., Voorhoeve, E., Sikkema-Raddatz, B., van Zutven, L.J.C.M., Srebniak, M.I., Huijsdens-van Amsterdam, K., Engelen, J.J.M., Smeets, D., van Kaam, A.H., Cornel, M.C.

المصدر: de Groot-van der Mooren , M , de Graaf , G , Weijerman , M E , Hoffer , M J V , Knijnenburg , J , van der Kevie-Kersemaekers , A M M F , Kooper , A J A , Voorhoeve , E , Sikkema-Raddatz , B , van Zutven , L J C M , Srebniak , M I , Huijsdens-van Amsterdam , K , Engelen , J J M , Smeets , D , van Kaam , A H & Cornel , M C 2021 , ' Does non-invasive prenatal testing affect the livebirth prevalence ....

مصطلحات موضوعية: LIVE BIRTH PREVALENCE, MATERNAL AGE, TRENDS, IMPACT, EPIDEMIOLOGY, TRISOMIES

الاتاحة: https://cris.maastrichtuniversity.nl/en/publications/f1681c48-7d6d-40a5-a233-ae24eacd4022
https://doi.org/10.1002/pd.6003

المؤلفون: Pizzo L., Jensen M., Polyak A., Rosenfeld J. A., Mannik K., Krishnan A., McCready E., Pichon O., Le Caignec C., Van Dijck A., Pope K., Voorhoeve E., Yoon J., Stankiewicz P., Cheung S. W., Pazuchanics D., Huber E., Kumar V., Kember R. L., Mari F., Curro A., Castiglia L., Galesi O., Avola E., Mattina T., Fichera M., Mandara L., Vincent M., Nizon M., Mercier S., Beneteau C., Blesson S., Martin-Coignard D., Mosca-Boidron A. -L., Caberg J. -H., Bucan M., Zeesman S., Nowaczyk M. J. M., Lefebvre M., Faivre L., Callier P., Skinner C., Keren B., Perrine C., Prontera P., Marle N., Renieri A., Reymond A., Kooy R. F., Isidor B., Schwartz C., Romano C., Sistermans E., Amor D. J., Andrieux J., Girirajan S.

المساهمون: Pizzo, L., Jensen, M., Polyak, A., Rosenfeld, J. A., Mannik, K., Krishnan, A., Mccready, E., Pichon, O., Le Caignec, C., Van Dijck, A., Pope, K., Voorhoeve, E., Yoon, J., Stankiewicz, P., Cheung, S. W., Pazuchanics, D., Huber, E., Kumar, V., Kember, R. L., Mari, F., Curro, A., Castiglia, L., Galesi, O., Avola, E., Mattina, T., Fichera, M., Mandara, L., Vincent, M., Nizon, M., Mercier, S., Beneteau, C., Blesson, S., Martin-Coignard, D., Mosca-Boidron, A. -L., Caberg, J. -H., Bucan, M., Zeesman, S., Nowaczyk, M. J. M., Lefebvre, M., Faivre, L., Callier, P., Skinner, C., Keren, B., Perrine, C., Prontera, P., Marle, N., Renieri, A., Reymond, A., Kooy, R. F., Isidor, B., Schwartz, C., Romano, C., Sistermans, E., Amor, D. J., Andrieux, J., Girirajan, S.

مصطلحات موضوعية: 16p11.2 deletion, autism, CNV, modifier, phenotypic variability, Autistic Disorder, Cell Adhesion Molecules, Neuronal, Chromosomes, Human, Pair 16, Cognition, DNA Copy Number Variation, Female, Gene Expression Regulation, Genetic Background, Male, Methyltransferase, Nerve Tissue Protein, Parent, Pedigree, Phenotype, Protein, Sequence Deletion, Sibling, Genetic Carrier Screening

وصف الملف: STAMPA

Relation: info:eu-repo/semantics/altIdentifier/pmid/30190612; info:eu-repo/semantics/altIdentifier/wos/WOS:000463167300008; volume:21; issue:4; firstpage:816; lastpage:825; numberofpages:10; journal:GENETICS IN MEDICINE; http://hdl.handle.net/11365/1078706; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85053071043; http://www.nature.com/gim/index.html

الاتاحة: http://hdl.handle.net/11365/1078706
https://doi.org/10.1038/s41436-018-0266-3
http://www.nature.com/gim/index.html

المؤلفون: Pizzo, L, Jensen, M, Polyak, A, Rosenfeld, JA, Mannik, K, Krishnan, A, McCready, E, Pichon, O, Le Caignec, C, Van Dijck, A, Pope, K, Voorhoeve, E, Yoon, J, Stankiewicz, P, Cheung, SW, Pazuchanics, D, Huber, E, Kumar, V, Kember, RL, Mari, F, Curro, A, Castiglia, L, Galesi, O, Avola, E, Mattina, T, Fichera, M, Mandara, L, Vincent, M, Nizon, M, Mercier, S, Beneteau, C, Blesson, S, Martin-Coignard, D, Mosca-Boidron, A-L, Caberg, J-H, Bucan, M, Zeesman, S, Nowaczyk, MJM, Lefebvre, M, Faivre, L, Callier, P, Skinner, C, Keren, B, Perrine, C, Prontera, P, Marle, N, Renieri, A, Reymond, A, Kooy, RF, Isidor, B, Schwartz, C, Romano, C, Sistermans, E, Amor, DJ, Andrieux, J, Girirajan, S

Relation: pii: S1098-3600(21)00963-1; Pizzo, L., Jensen, M., Polyak, A., Rosenfeld, J. A., Mannik, K., Krishnan, A., McCready, E., Pichon, O., Le Caignec, C., Van Dijck, A., Pope, K., Voorhoeve, E., Yoon, J., Stankiewicz, P., Cheung, S. W., Pazuchanics, D., Huber, E., Kumar, V., Kember, R. L. ,. Girirajan, S. (2019). Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants. GENETICS IN MEDICINE, 21 (4), pp.816-825. https://doi.org/10.1038/s41436-018-0266-3.; http://hdl.handle.net/11343/271212

الاتاحة: http://hdl.handle.net/11343/271212

المؤلفون: Overwater, E. (Eline), Marsili, L. (Luisa), Baars, M.J.H. (Marieke), Baas, A.F. (Annette), van de Beek, I. (Irma), Dulfer, E. (Eelco), Hagen, J.M. (Johanna) van, Hilhorst-Hofstee, Y. (Yvonne), Kempers, M.J.E. (Marlies), Krapels, I.P.C. (Ingrid), Menke, L.A. (Leonie A.), Verhagen, J.M.A. (Judith), Yeung, K.K. (Kak K.), Zwijnenburg, P.J.G., Groenink, M. (Maarten), van Rijn, P. (Peter), Weiss, M.M. (Marjan), Voorhoeve, E., van Tintelen, J.P. (J. Peter), Houweling, A.C. (Arjan), Maugeri, A. (Alessandra)

المصدر: Human Mutation

مصطلحات موضوعية: Copy-number variations, EXome hidden Markov model, Genetics, Thoracic aortic aneurysm, Thoracic aortic dissection

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/109575; urn:hdl:1765/109575

الاتاحة: http://repub.eur.nl/pub/109575
https://doi.org/10.1002/humu.23565

المؤلفون: Beunders, G., Voorhoeve, E., Golzio, C., Pardo, L.M., Rosenfeld, J.A., Talkowski, M.E., Simonic, I., Lionel, A.C., Vergult, S., Pyatt, R.E., van de Kamp, J.M., Nieuwint, A.W.M., Weiss, M.M., Rizzu, P., Verwer, L.E.N.I., van Spaendonk, R.M.L., Shen, Y.P., Wu, B.L., Yu, T.T., Yu, Y.G., Chiang, C., Gusella, J.F., Lindgren, A.M., Morton, C.C., van Binsbergen, E., Bulk, S., van Rossem, E., Vanakker, O., Armstrong, R., Park, S.M., Greenhalgh, L., Maye, U., Neill, N.J., Abbott, K.M., Sell, S., Ladda, R., Farber, D.M., Bader, P.I., Cushing, T., Drautz, J.M., Konczal, L., Nash, P., de Los Reyes, E., Carter, M.T., Hopkins, E., Marshall, C.R., Osborne, L.R., Gripp, K.W., Thrush, D.L., Hashimoto, S, Gastier-Foster, J.M., Astbury, C., Ylstra, B., Meijers-Heijboer, E.J., Posthuma, D., Menten, B, Mortier, G., Scherer, S.W., Eichler, E.E., Girirajan, S., Katsanis, N., Groffen, A.J.A., Sistermans, E.A.

المصدر: Beunders , G , Voorhoeve , E , Golzio , C , Pardo , L M , Rosenfeld , J A , Talkowski , M E , Simonic , I , Lionel , A C , Vergult , S , Pyatt , R E , van de Kamp , J M , Nieuwint , A W M , Weiss , M M , Rizzu , P , Verwer , L E N I , van Spaendonk , R M L , Shen , Y P , Wu , B L , Yu , T T , Yu , Y ....

الاتاحة: https://research.vu.nl/en/publications/3493c27c-20cf-490c-93b0-95d806279c39
https://doi.org/10.1016/j.ajhg.2012.12.011
https://hdl.handle.net/1871.1/3493c27c-20cf-490c-93b0-95d806279c39
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3567268/

المؤلفون: Marsili, L., Overwater, E., Hanna, N., Baujat, G., Baars, M.J.H., Boileau, C., Bonneau, D., Brehin, A.C., Capri, Y., Cheung, H.Y., Dulfer, E., Gerard, M., Gouya, L., Hilhorst-Hofstee, Y., Houweling, A.C., Isidor, B., Gloan, L. le, Menke, L.A., Odent, S., Morice-Picard, F., Vanlerberghe, C., Voorhoeve, E., Tintelen, J.P. van, Maugeri, A., Arnaud, P.

المصدر: Clinical Genetics

مصطلحات موضوعية: aortic dilatation, aortic dissection, connective tissue disorder, Loeys-Dietz syndrome, TGFB3, transforming growth factor beta 3

وصف الملف: application/pdf

Relation: lumc-id: 112047325; https://hdl.handle.net/1887/3184981

الاتاحة: https://hdl.handle.net/1887/3184981
https://onlinelibrary.wiley.com/doi/10.1111/cge.13700
https://doi.org/10.1111/cge.13700

المؤلفون: Maugeri, A., Voorhoeve, E., Appelman-Dijkstra, N. M., van Dijk, A. T. H., van Dijk, F. S., Eekhoff, E. M. W., Elting, M. W., van Haeringen, A., Harsevoort, A., Isrie, M., Janus, G. J. M., de Jongh, R. T., van de Kamp, J. M., van Maarle, M. C., Marcelis, C. L. M., Simon, M. E. H., Simsek, S., Stumpel, C. T. R. M., Terhal, P. A., Veenstra-Knol, H. E., Zillikens, M. C., Meijers-Heijboer, E. J., Sistermans, E. A., Weiss, M. M., Pals, G., Micha, D.

المصدر: Maugeri , A , Voorhoeve , E , Appelman-Dijkstra , N M , van Dijk , A T H , van Dijk , F S , Eekhoff , E M W , Elting , M W , van Haeringen , A , Harsevoort , A , Isrie , M , Janus , G J M , de Jongh , R T , van de Kamp , J M , van Maarle , M C , Marcelis , C L M , Simon , M E H , Simsek , S , Stumpel , C T R M , Terhal ....

الاتاحة: https://research.vumc.nl/en/publications/3b082863-6e4d-4af5-b55d-398e5fc4a755

المؤلفون: Marsili, L, Overwater, E, Hanna, N, Baujat, G, Baars, M J H, Brehin, A C, Gerard, M, Gouya, L, Houweling, A C, Vanlerberghe, C, Voorhoeve, E, Van Tintelen, J P, Maugeri, A, Arnaud, P

المصدر: European Heart Journal ; volume 40, issue Supplement_1 ; ISSN 0195-668X 1522-9645

مصطلحات موضوعية: Cardiology and Cardiovascular Medicine

الاتاحة: http://dx.doi.org/10.1093/eurheartj/ehz746.1087
http://academic.oup.com/eurheartj/article-pdf/40/Supplement_1/ehz746.1087/30198112/ehz746.1087.pdf

المؤلفون: Bakker, E, Van der Wielen, M J, Voorhoeve, E, Ippel, P F, Padberg, G W, Frants, R R, Wijmenga, C

مصطلحات موضوعية: Research Article

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/33/1/29; http://dx.doi.org/10.1136/jmg.33.1.29

الاتاحة: http://jmg.bmj.com/cgi/content/short/33/1/29
https://doi.org/10.1136/jmg.33.1.29

المؤلفون: Oosterwijk, J C, van der Wielen, M J, van de Vosse, E, Voorhoeve, E, Bakker, E

مصطلحات موضوعية: Research Article

وصف الملف: text/html

Relation: http://jmg.bmj.com/cgi/content/short/32/9/736; http://dx.doi.org/10.1136/jmg.32.9.736

الاتاحة: http://jmg.bmj.com/cgi/content/short/32/9/736
https://doi.org/10.1136/jmg.32.9.736

المؤلفون: Haan, J. (Joost), Duijn, C.M. (Cornelia) van, Voorhoeve, E., Harskamp, F. (Frans) van, Maat-Schieman, M.L.C., Roos, R.A.C. (Raymund), Bakker, E.R.M. (Elvira), Swieten, J.C. (John) van, Broeckhoven, C. (Christine) van

المصدر: Annals of Neurology vol. 36, pp. 434-437

مصطلحات موضوعية: 0 (Amyloid beta-Protein Precursor), 0 (Apolipoproteins E), 0 (Codon), Adult, Aged, 80 and over, Alleles, Alzheimer Disease/genetics, Amyloid Neuropathies/genetics/pathology, Amyloid beta-Protein Precursor/*genetics, Apolipoproteins E/*genetics, Brain/pathology, Cerebral Hemorrhage/genetics/pathology, Codon, Female, Genotype, Human, Immunohistochemistry, Male, Middle Aged, Mutation/*genetics, Support, Non-U.S. Gov't, U.S. Gov't, P.H.S, dementia

وصف الملف: application/pdf

Relation: http://repub.eur.nl/pub/5812; urn:hdl:1765/5812

الاتاحة: http://repub.eur.nl/pub/5812

المؤلفون: de Graaf, G., Engelen, J. J.M., Gijsbers, A. C.J., Hochstenbach, R., Hoffer, M. J.V., Kooper, A. J.A., Sikkema-Raddatz, B., Srebniak, M. I., van der Kevie-Kersemaekers, A. M.F., van Zutven, L. J.C.M., Voorhoeve, E.

المصدر: de Graaf , G , Engelen , J J M , Gijsbers , A C J , Hochstenbach , R , Hoffer , M J V , Kooper , A J A , Sikkema-Raddatz , B , Srebniak , M I , van der Kevie-Kersemaekers , A M F , van Zutven , L J C M & Voorhoeve , E 2017 , ' Estimates of live birth prevalence of children with Down syndrome in the period 1991–2015 in the Netherlands ' , Journal of Intellectual Disability Research , vol. 61 , no. 5 , pp. 461-470 . https://doi.org/10.1111/jir.12371

الاتاحة: https://research.vumc.nl/en/publications/55cad43f-3ced-45c8-9fe3-9a2e5fd13afc
https://doi.org/10.1111/jir.12371
http://www.scopus.com/inward/record.url?scp=85014531937&partnerID=8YFLogxK

المؤلفون: Overwater, E, Marsili, L, Baars, MJH, Baas, AF, van de Beek, I, Dulfer, E, van Hagen, JM, Hilhorst-Hofstee, Y, Kempers, M, Krapels, IP, Menke, LA, Verhagen, Judith, Yeung, KK, Zwijnenburg, PJG, Groenink, M, van Rijn, P, Weiss, MM, Voorhoeve, E, Tintelen, JP, Houweling, AC, Maugeri, A

المصدر: Overwater , E , Marsili , L , Baars , MJH , Baas , AF , van de Beek , I , Dulfer , E , van Hagen , JM , Hilhorst-Hofstee , Y , Kempers , M , Krapels , IP , Menke , LA , Verhagen , J , Yeung , KK , Zwijnenburg , PJG , Groenink , M , van Rijn , P , Weiss , MM , Voorhoeve , E , Tintelen , JP , Houweling , AC & Maugeri , A 2018 , ' Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders ' , Human Mutation , vol. 39 , no. 9 , pp. 1173-1192 .

مصطلحات الفهرس: dk/atira/pure/keywords/researchprograms/AFL001000/EMCOR01; name=EMC OR-01, article

URL: https://pure.eur.nl/en/publications/23835a4a-5dc9-49b3-81b7-30079864de63

المؤلفون: de Graaf, G, Engelen, JJM, Gijsbers, ACJ, Hochstenbach, R, Hoffer, MJV, Kooper, AJA, Sikkema-Raddatz, B, Srebniak, Gosia, van der Kevie-Kersemaekers, AMF, van Zutven, Laura, Voorhoeve, E

المساهمون: Clinical Genetics

المصدر: Journal of Intellectual Disability Research, 61(5), 461-470. Wiley-Blackwell Publishing Ltd

URL الوصول: https://explore.openaire.eu/search/publication?articleId=narcis______::2bf186986535802b92dfb8b77575425d
https://pure.eur.nl/en/publications/cda36083-bbbb-4b92-a15d-9c65211e7afa

المؤلفون: Stokman, L., Nossent, E.J., Grunberg, K., Meijboom, L., Yakicier, M.C., Voorhoeve, E., Houweling, A.C.

المصدر: Clinical Case Reports, 4, 4, pp. 412-5

مصطلحات موضوعية: Radboudumc 9: Rare cancers RIMLS: Radboud Institute for Molecular Life Sciences

Relation: https://repository.ubn.ru.nl//bitstream/handle/2066/172088/172088.pdf; http://hdl.handle.net/2066/172088; https://doi.org/10.1002/ccr3.532

الاتاحة: http://hdl.handle.net/2066/172088
https://repository.ubn.ru.nl//bitstream/handle/2066/172088/172088.pdf
https://doi.org/10.1002/ccr3.532

المؤلفون: Graaf, G de, Engelen, J.J., Gijsbers, A.C.J., Hochstenbach, R., Hoffer, M.J., Kooper, A.J.A., Sikkema-Raddatz, B., Srebniak, M.I., Kevie-Kersemaekers, A.M. van der, Zutven, L.J.C.M. van, Voorhoeve, E.

المصدر: Journal of Intellectual Disability Research; 461; 470; 0964-2633; 5; 61; ~Journal of Intellectual Disability Research~461~470~~~0964-2633~5~61~~

URL: http://hdl.handle.net/2066/174737

المؤلفون: Genetica, Genetica Sectie Genoomdiagnostiek, Brain, de Graaf, G., Engelen, J. J.M., Gijsbers, A. C.J., Hochstenbach, R., Hoffer, M. J.V., Kooper, A. J.A., Sikkema-Raddatz, B., Srebniak, M. I., van der Kevie-Kersemaekers, A. M.F., van Zutven, L. J.C.M., Voorhoeve, E.

URL: https://doi.org/10.1111/jir.12371
http://hdl.handle.net/1874/349997
https://dspace.library.uu.nl/handle/1874/349997
http://www.scopus.com/inward/record.url?scp=85014531937&partnerID=8YFLogxK
0964-2633
Journal of Intellectual Disability Research
61
5
461
470

المؤلفون: Beunders, G., de Munnik, S.A., van der Aa, N.E., Ceulemans, B., Voorhoeve, E., Groffen, A.J.A., Nillesen, W.M., Meijers-Heijboer, E.J., Kooy, F.R., Yntema, H.G., Sistermans, E.A.

المصدر: Beunders , G , de Munnik , S A , van der Aa , N E , Ceulemans , B , Voorhoeve , E , Groffen , A J A , Nillesen , W M , Meijers-Heijboer , E J , Kooy , F R , Yntema , H G & Sistermans , E A 2015 , ' Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome ' , European Journal of Human Genetics , vol. 23 , no. 6 , pp. 803-807 . https://doi.org/10.1038/ejhg.2014.173

الاتاحة: https://research.vumc.nl/en/publications/e331e6e3-544e-40d6-a271-e6f96e940ece
https://doi.org/10.1038/ejhg.2014.173

المؤلفون: Graaf, G., Engelen, J. J. M., Gijsbers, A. C. J., Hochstenbach, R., Hoffer, M. J. V., Kooper, A. J. A., Sikkema‐Raddatz, B., Srebniak, M. I., Kevie‐Kersemaekers, A. M. F., Zutven, L. J. C. M., Voorhoeve, E.

المصدر: Journal of Intellectual Disability Research; May2017, Vol. 61 Issue 5, p461-470, 10p, 1 Chart, 1 Graph

مصطلحات موضوعية: DOWN syndrome, CHILDBIRTH, JUVENILE diseases, DISEASE prevalence, MATERNAL age, PREGNANCY, CHILDREN, HISTORY

مصطلحات جغرافية: NETHERLANDS